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(2022) GGPS1-associated muscular dystrophy with and without hearing loss. Annals of Clinical and Translational Neurology. pp. 1465-1474.
(2022) <i>GGPS1</i>-associated muscular dystrophy with and without hearing loss. Annals of Clinical and Translational Neurology. pp. 1465-1474. ISSN 2328-9503
(2019) The clinical spectrum of the congenital myasthenic syndrome resulting from <i>COL13A1</i> mutations. Brain. pp. 1547-1560. ISSN 0006-8950